Martinelli P, Gabellini A S, Ciucci G, Govoni E, Vitali S, Gullì M R
Eur Neurol. 1987;26(1):17-22. doi: 10.1159/000116307.
A case of a mediterranean boy with congenital muscular dystrophy (CMD) and central nervous system (CNS) involvement with mild intellectual impairment and seizures is reported. Muscular dystrophy involved both skeletal and mimic muscles, and histological findings were consistent with a congenital dystrophy. EEG recordings showed generalized and localized paroxysmal activities. CT scan demonstrated low-density periventricular areas. Ophthalmoplegia was also observed. A literature review disclosed that in some western cases of CMD plus CNS involvement, cranial muscles other than mimic muscles may be involved.
报告了一例患有先天性肌营养不良（CMD）并累及中枢神经系统（CNS）的地中海男孩病例，该男孩有轻度智力障碍和癫痫发作。肌营养不良累及骨骼肌和表情肌，组织学检查结果符合先天性肌营养不良。脑电图记录显示有全身性和局灶性阵发性活动。CT扫描显示脑室周围低密度区。还观察到眼肌麻痹。文献综述显示，在一些西方的CMD合并CNS受累病例中，除表情肌外的颅肌也可能受累。
